Canonical Allele Identifier: CA557566009

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1560912828
• gnomAD v2: 5-1414533-G-GGGAAGGGAA
• gnomAD v3: 5-1414418-G-GGGAAGGGAA
• gnomAD v4: 5-1414418-G-GGGAAGGGAA
• MyVariant Identifiers: chr5:g.1414533_1414534insGGAAGGGAA (hg19) ; chr5:g.1414418_1414419insGGAAGGGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414420_1414421insAAGGGAAGG , CM000667.2:g.1414420_1414421insAAGGGAAGG	GRCh38
NC_000005.9:g.1414535_1414536insAAGGGAAGG , CM000667.1:g.1414535_1414536insAAGGGAAGG	GRCh37
NC_000005.8:g.1467535_1467536insAAGGGAAGG	NCBI36
NG_015885.1:g.36010_36011insTTCCCTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+272_1156+273insTTCCCTTCC MANE Select	ENSP00000270349.9:n.1156+272_1156+273insTTCCCTTCC
ENST00000270349.11:c.1156+272_1156+273insTTCCCTTCC	ENSP00000270349.9:n.1156+272_1156+273insTTCCCTTCC
NM_001044.4:c.1156+272_1156+273insTTCCCTTCC	NP_001035.1:n.1156+272_1156+273insTTCCCTTCC
NM_001044.5:c.1156+272_1156+273insTTCCCTTCC MANE Select	NP_001035.1:n.1156+272_1156+273insTTCCCTTCC